Primary Ciliary Dyskinesia and Newborn Respiratory Distress

Primary ciliary dyskinesia is an autosomal recessive genetic disease that results in impaired mucociliary clearance causing progressive involvement of the upper and lower respiratory tract, characterized by airway obstruction and recurrent infections of the lungs, middle ear and paranasal sinuses. Other clinical manifestations include situs inversus totalis and male infertility. Recently, neonatal respiratory distress has been found to be a common clinical presentation of patients with primary ciliary dyskinesia, indicating that this is an important symptom complex in early life for this condition. The diagnosis requires a high index of suspicion, but primary ciliary dyskinesia must be considered in any term neonate who develops respiratory distress or persistent hypoxemia and has situs inversus or an affected sibling. Moreover, further evaluation is warranted in children who had transient respiratory distress in newborn period and subsequently develop persistent cough or chronic otitis media.